Variant ID: 1-45797844-G-C

NM_012222.2(MUTYH):c.918C>G;(p.Arg306Arg)

This variant was identified in 1 publication




Publications:


A human MUTYH variant linking colonic polyposis to redox degradation of the [4Fe4S]2+ cluster.

Nature Chemistry
KJ McDonnell, JA Chemler, PL Bartels, E O'Brien, ML Marvin, J Ortega, RH Stern, L Raskin, GM Li, DH Sherman, JK Barton, SB Gruber
Publication Date: 2018-08

Variant appearance in text: MUTYH: 918C>G
PubMed Link: 29915346
Variant Present in the following documents:
  • Main text
  • NIHMS971847-supplement-SI.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.846C>G p.Arg282= synonymous_variant 10/16 -
ENST00000355498.2 c.843C>G p.Arg281= synonymous_variant 10/16 -
ENST00000372098.3 c.918C>G p.Arg306= synonymous_variant 10/16 -
ENST00000372100.5 c.876C>G p.Arg292= synonymous_variant 10/16 -
ENST00000372104.1 c.843C>G p.Arg281= synonymous_variant 11/17 -
ENST00000372110.3 c.888C>G p.Arg296= synonymous_variant 10/16 -
ENST00000372115.3 c.885C>G p.Arg295= synonymous_variant 10/16 -
ENST00000412971.1 c.459C>G p.Arg153= synonymous_variant 5/7 -
ENST00000448481.1 c.876C>G p.Arg292= synonymous_variant 10/16 -
ENST00000450313.1 c.927C>G p.Arg309= synonymous_variant 10/16 -
ENST00000456914.2 c.843C>G p.Arg281= synonymous_variant 10/16 -
ENST00000461495.1 c.*582C>G - 3_prime_UTR_variant,NMD_transcript_variant 9/10 -
ENST00000462388.1 n.534C>G - non_coding_transcript_exon_variant 4/5 -
ENST00000466231.1 n.208C>G - non_coding_transcript_exon_variant 1/3 -
ENST00000467459.1 c.237C>G p.Arg79= synonymous_variant,NMD_transcript_variant 2/8 -
ENST00000470256.1 c.*172C>G - 3_prime_UTR_variant,NMD_transcript_variant 8/9 -
ENST00000475516.1 c.*656C>G - 3_prime_UTR_variant,NMD_transcript_variant 10/16 -
ENST00000481571.1 c.*656C>G - 3_prime_UTR_variant,NMD_transcript_variant 10/16 -
ENST00000488731.2 c.187+591C>G - intron_variant - 3/6
ENST00000528013.2 c.885C>G p.Arg295= synonymous_variant 10/16 -
ENST00000528332.2 c.229+591C>G - intron_variant - 3/6
ENST00000529892.1 c.108C>G p.Arg36= synonymous_variant 1/6 -
ENST00000529984.1 c.187+591C>G - intron_variant - 3/6
ENST00000531105.1 c.115+2219C>G - intron_variant - 2/2
ENST00000533178.1 c.*172C>G - 3_prime_UTR_variant,NMD_transcript_variant 4/10 -
NM_001048171.1 c.885C>G p.Arg295= synonymous_variant 10/16 -
NM_001048172.1 c.846C>G p.Arg282= synonymous_variant 10/16 -
NM_001048173.1 c.843C>G p.Arg281= synonymous_variant 10/16 -
NM_001048174.1 c.843C>G p.Arg281= synonymous_variant 10/16 -
NM_001128425.1 c.927C>G p.Arg309= synonymous_variant 10/16 -
NM_001293190.1 c.888C>G p.Arg296= synonymous_variant 10/16 -
NM_001293191.1 c.876C>G p.Arg292= synonymous_variant 10/16 -
NM_001293192.1 c.567C>G p.Arg189= synonymous_variant 10/16 -
NM_001293195.1 c.843C>G p.Arg281= synonymous_variant 11/17 -
NM_001293196.1 c.567C>G p.Arg189= synonymous_variant 10/16 -
NM_001350650.1 c.498C>G p.Arg166= synonymous_variant 9/15 -
NM_001350651.1 c.498C>G p.Arg166= synonymous_variant 9/15 -
NM_012222.2 c.918C>G p.Arg306= synonymous_variant 10/16 -
NR_146882.1 n.1101C>G - non_coding_transcript_exon_variant 10/17 -
NR_146883.1 n.915C>G - non_coding_transcript_exon_variant 9/16 -